Congenital malformations of the genitalia can result from abnormalities of any of the steps of sex determination and differentiation described below. Genital ambiguity can exist by itself, or it can occur in conjunction with other congenital malformations. It is important to investigate the etiology of genital ambiguity in affected newborns as this phenotype can alert one to life-threatening conditions such as congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency or lipoid adrenal hyperplasia. A recent consensus statement on the management of newborns affected by syndromes of abnormal sex determination and differentiation proposed a new nomenclature for conditions where discordance between chromosomal sex, gonadal sex and genital development exists (1). According to this consensus “disorders of sex development,” or DSD, is preferred in place of previously used, potentially derogatory terms such as “intersex,” “hermaphrodite,” “pseudohermaphrodite,” or “sex reversal.”

In addition to the importance of detecting life-threatening conditions that may co-exist with ambiguous genitalia, parents and physicians recognize the importance of assigning a sex of rearing to newborns who present with ambiguous genitalia. Early diagnosis of the etiology underlying genital ambiguity can aid families and physicians in deciding upon an optimal sex of rearing for affected newborns (1-3). Factors to be considered include the degree of genital ambiguity at birth, the ability to produce and respond to androgens, the number and type of surgeries needed for constructing male or female genitalia (with some parents opting for no genital surgery), predictions for long-term sexual function and satisfaction with sex of rearing, and fertility potential (1).

It is generally agreed that professionals who have experience with DSDs (pediatric endocrinologists, pediatric urologists, psychiatrists, psychologists, geneticists) explain the steps of sex determination and differentiation to parents of affected infants followed by an explanation, when possible, of the underlying cause of DSD for each case. Additionally, it is important for these professionals to explain what is known about the long-term medical, surgical and psychosexual experience of others affected by DSDs, and to acknowledge when such information is unavailable (1). Finally, several websites are now available for patients and their families that allow for the exchange of information relating to peer support, coping strategies and decision-making processes that may improve outcomes for those affected by DSDs.